Christine Kretz

Christine Kretz

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Christine Kretz

Christine Kretz

Publications by authors named "Christine Kretz"

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21Publications

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Reducing dynamin 2 (DNM2) rescues -related dominant centronuclear myopathy.

Proc Natl Acad Sci U S A 2018 10 5;115(43):11066-11071. Epub 2018 Oct 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France;

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http://dx.doi.org/10.1073/pnas.1808170115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205463PMC
October 2018

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.

Mol Ther 2018 04 14;26(4):1082-1092. Epub 2018 Feb 14.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67400, France; INSERM U964, Illkirch 67400, France; CNRS UMR7104, Illkirch 67400, France; Strasbourg University, Illkirch 67400, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080128PMC
April 2018

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.

J Clin Invest 2017 12 13;127(12):4477-4487. Epub 2017 Nov 13.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1172/JCI90542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707152PMC
December 2017

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.

Nat Commun 2017 06 7;8:15661. Epub 2017 Jun 7.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France.

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http://dx.doi.org/10.1038/ncomms15661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467247PMC
June 2017

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.

FASEB J 2013 Aug 21;27(8):3384-94. Epub 2013 May 21.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

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http://dx.doi.org/10.1096/fj.12-220947DOI Listing
August 2013

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle.

Adv Biol Regul 2012 Jan;52(1):98-107

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 1, rue Laurent Fries, BP10142, 67404 Illkirch, France.

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http://linkinghub.elsevier.com/retrieve/pii/S006525711100055
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http://dx.doi.org/10.1016/j.advenzreg.2011.09.007DOI Listing
January 2012

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

Neuromuscul Disord 2010 Jan 22;20(1):53-6. Epub 2009 Nov 22.

Department of Neuroscience, Neurology, University Hospital, Uppsala University, Uppsala, Sweden.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660900659
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http://dx.doi.org/10.1016/j.nmd.2009.10.006DOI Listing
January 2010

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Proc Natl Acad Sci U S A 2009 Nov 21;106(44):18763-8. Epub 2009 Oct 21.

Department of Neurobiology and Genetics, and Imaging Center-Electron Microscopy, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de la Recherche Scientifique, Unite Mixte de Recherche 7104, Université Louis Pasteur, Collège de France, 67404 Illkirch, France.

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http://dx.doi.org/10.1073/pnas.0900705106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773964PMC
November 2009

Dementia in a child with myotubular myopathy.

Pediatr Neurol 2009 Jun;40(6):483-5

Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520-8064, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940900045
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http://dx.doi.org/10.1016/j.pediatrneurol.2009.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808886PMC
June 2009

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nat Genet 2007 Sep 5;39(9):1134-9. Epub 2007 Aug 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, F-67400 Illkirch, France.

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http://www.nature.com/doifinder/10.1038/ng2086
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http://dx.doi.org/10.1038/ng2086DOI Listing
September 2007

CXorf6 is a causative gene for hypospadias.

Nat Genet 2006 Dec 5;38(12):1369-71. Epub 2006 Nov 5.

Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.

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http://dx.doi.org/10.1038/ng1900DOI Listing
December 2006

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Hum Mol Genet 2006 Nov 28;15(21):3098-106. Epub 2006 Sep 28.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, Strasbourg, France.

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http://dx.doi.org/10.1093/hmg/ddl250DOI Listing
November 2006

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

Am J Med Genet A 2005 Apr;134(3):338-40

Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.30574DOI Listing
April 2005